U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mast cell leukemia

MedGen UID:
44123
•Concept ID:
C0023461
•
Neoplastic Process
Synonyms: Leukemia, Mast Cell; Leukemia, Mast-Cell; Leukemias, Mast-Cell; Mast Cell Leukemia; Mast-Cell Leukemia; Mast-Cell Leukemias
SNOMED CT: Mast cell leukemia (clinical) (110002002); Mast cell leukemia (128924002); Mast cell leukemia (110002002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0020334
OMIM®: 154800
Orphanet: ORPHA98851

Definition

A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMast cell leukemia
Follow this link to review classifications for Mast cell leukemia in Orphanet.

Professional guidelines

PubMed

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal.
Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hägglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP
Ann Oncol 2014 Sep;25(9):1691-1700. Epub 2014 Mar 27 doi: 10.1093/annonc/mdu047. PMID: 24675021Free PMC Article

Recent clinical studies

Etiology

Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts.
Valent P, Akin C, Arock M, Gleixner KV, Greinix H, Hermine O, Horny HP, Ivanov D, Orfao A, Rabitsch W, Reiter A, Schulenburg A, Sotlar K, Sperr WR, Ustun C
Int J Mol Sci 2023 Oct 12;24(20) doi: 10.3390/ijms242015125. PMID: 37894806Free PMC Article
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry.
Kennedy VE, Perkins C, Reiter A, Jawhar M, Lübke J, Kluin-Nelemans HC, Shomali W, Langford C, Abuel J, Hermine O, Niedoszytko M, Gorska A, Mital A, Bonadonna P, Zanotti R, Tanasi I, Mattsson M, Hagglund H, Triggiani M, Yavuz AS, Panse J, Christen D, Heizmann M, Shoumariyeh K, Müller S, Elena C, Malcovati L, Fiorelli N, Wortmann F, Vucinic V, Brockow K, Fokoloros C, Papageorgiou SG, Breynaert C, Bullens D, Doubek M, Ilerhaus A, Angelova-Fischer I, Solomianyi O, Várkonyi J, Sabato V, Rüfer A, Schug TD, Hermans MAW, Fortina AB, Caroppo F, Bumbea H, Gulen T, Hartmann K, Elberink HO, Schwaab J, Arock M, Valent P, Sperr WR, Gotlib J
Blood Adv 2023 May 9;7(9):1713-1724. doi: 10.1182/bloodadvances.2022008292. PMID: 36094848Free PMC Article
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pharmacotherapy in Mast Cell Leukemia.
Laforgia M, Calabrò C, Scattone A, Laface C, Porcelli M, Gadaleta CD, Nardulli P, Ranieri G
Expert Opin Pharmacother 2020 Jun;21(9):1059-1069. Epub 2020 Mar 25 doi: 10.1080/14656566.2020.1744566. PMID: 32208985

Diagnosis

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
The international consensus classification of mastocytosis and related entities.
Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A
Virchows Arch 2023 Jan;482(1):99-112. Epub 2022 Oct 10 doi: 10.1007/s00428-022-03423-3. PMID: 36214901
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Mast cell leukemia.
Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
Blood 2013 Feb 21;121(8):1285-95. Epub 2012 Dec 14 doi: 10.1182/blood-2012-07-442400. PMID: 23243287
Systemic mastocytosis.
Ozdemir D, Dagdelen S, Erbas T
Am J Med Sci 2011 Nov;342(5):409-15. doi: 10.1097/MAJ.0b013e3182121131. PMID: 21629042

Therapy

Case Report: Molecular and microenvironment change upon midostaurin treatment in mast cell leukemia at single-cell level.
Liu MK, Liu F, Dai YT, Weng XQ, Cheng LL, Fan LQ, Liu H, Jiang L, Sun XJ, Fang H, Wang L, Zhao WL
Front Immunol 2023;14:1210909. Epub 2023 Aug 10 doi: 10.3389/fimmu.2023.1210909. PMID: 37638009Free PMC Article
Avapritinib for Systemic Mastocytosis.
Bose P, Verstovsek S
Expert Rev Hematol 2021 Aug;14(8):687-696. Epub 2021 Aug 6 doi: 10.1080/17474086.2021.1959315. PMID: 34289787
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Midostaurin: a magic bullet that blocks mast cell expansion and activation.
Valent P, Akin C, Hartmann K, George TI, Sotlar K, Peter B, Gleixner KV, Blatt K, Sperr WR, Manley PW, Hermine O, Kluin-Nelemans HC, Arock M, Horny HP, Reiter A, Gotlib J
Ann Oncol 2017 Oct 1;28(10):2367-2376. doi: 10.1093/annonc/mdx290. PMID: 28945834Free PMC Article
C-KIT signaling in cancer treatment.
Stankov K, Popovic S, Mikov M
Curr Pharm Des 2014;20(17):2849-80. doi: 10.2174/13816128113199990593. PMID: 23944364

Prognosis

Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts.
Valent P, Akin C, Arock M, Gleixner KV, Greinix H, Hermine O, Horny HP, Ivanov D, Orfao A, Rabitsch W, Reiter A, Schulenburg A, Sotlar K, Sperr WR, Ustun C
Int J Mol Sci 2023 Oct 12;24(20) doi: 10.3390/ijms242015125. PMID: 37894806Free PMC Article
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.
Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny HP
Leuk Res 2015 Jan;39(1):1-5. Epub 2014 Sep 30 doi: 10.1016/j.leukres.2014.09.010. PMID: 25443885Free PMC Article
Systemic mastocytosis.
Ozdemir D, Dagdelen S, Erbas T
Am J Med Sci 2011 Nov;342(5):409-15. doi: 10.1097/MAJ.0b013e3182121131. PMID: 21629042

Clinical prediction guides

Response and resistance to cladribine in patients with advanced systemic mastocytosis: a registry-based analysis.
Lübke J, Naumann N, Metzgeroth G, Kreil S, Brand T, Horny HP, Sotlar K, Cross NCP, Fabarius A, Valent P, Hofmann WK, Reiter A, Schwaab J
Ann Hematol 2023 Aug;102(8):2077-2085. Epub 2023 Apr 4 doi: 10.1007/s00277-023-05180-y. PMID: 37012462Free PMC Article
MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells and Impairs IgE-Dependent Degranulation.
Proaño-Pérez E, Ollé L, Guo Y, Aparicio C, Guerrero M, Muñoz-Cano R, Martin M
Int J Mol Sci 2023 Feb 9;24(4) doi: 10.3390/ijms24043515. PMID: 36834926Free PMC Article
Avapritinib for Systemic Mastocytosis.
Bose P, Verstovsek S
Expert Rev Hematol 2021 Aug;14(8):687-696. Epub 2021 Aug 6 doi: 10.1080/17474086.2021.1959315. PMID: 34289787
The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.
Jawhar M, Schwaab J, Meggendorfer M, Naumann N, Horny HP, Sotlar K, Haferlach T, Schmitt K, Fabarius A, Valent P, Hofmann WK, Cross NCP, Metzgeroth G, Reiter A
Haematologica 2017 Jun;102(6):1035-1043. Epub 2017 Mar 2 doi: 10.3324/haematol.2017.163964. PMID: 28255023Free PMC Article
C-KIT signaling in cancer treatment.
Stankov K, Popovic S, Mikov M
Curr Pharm Des 2014;20(17):2849-80. doi: 10.2174/13816128113199990593. PMID: 23944364

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...